G638W (p.Gly638Trp) variant of GAA (Lysosomal alpha-glucosidase)
G638W (p.Gly638Trp) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G638W (p.Gly638Trp) variant details
- p.Gly638Trp
- rs757617999
- ClinGen CA8815545
- ClinVar RCV000333327
- ClinVar RCV001243631
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (PMID 10737124)
- Cited in: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID 18429042)